Aprosencephaly cerebellar dysgenesis

disorder

SNOMED 1237366005CUI C1832412

Overview

Aprosencephaly cerebellar dysgenesis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent mesencephalon

Always present (100%)HP:0007265

Aprosencephaly

Always present (100%)HP:0007268

Cerebellar dysplasia

Always present (100%)HP:0007033

Deformity of the skull

Always present (100%)HP:0001363

Hypoplastic mandible condyle

Always present (100%)HP:0000347

Poorly formed metencephalon

Always present (100%)HP:0007027

Retinal dysgenesis

Always present (100%)HP:0007973

Fetal foot inversion

Frequent (30-79%)HP:0001762

Uvula bifida

Frequent (30-79%)HP:0000193

Related Conditions

Dysgenesis of the cerebellum(parent)

Dysgenesis of the brainstem(parent)

Aprosencephaly(parent)

Genetic disease(parent)

Midbrain disorder(parent)

Hemicephaly(parent)

Quick Facts

SNOMED CT: 1237366005
UMLS CUI: C1832412
Fully Specified Name: Aprosencephaly cerebellar dysgenesis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.